Tag

Statins

17 genetic variants with this tag.

RSID	Gene	Description	Category
rs11591147	PCSK9 R46L	Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...	Atherogenic Lipoproteins	Statins	Established
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile)	Atherogenic Lipoproteins	Statins	Moderate
rs12713559	APOB APOB R3558C	Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%,...	Cholesterol & Lipoproteins	Statins	Moderate
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Statins	Strong
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	Statins	Moderate
rs28942083	LDLR Cys667Tyr	Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...	Cholesterol & Lipoproteins	Statins	Established
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Statins	Moderate
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Statins	Moderate
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Statins	Strong
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Statins	Strong
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Statins	Strong
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Statins	Established
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Coronary Artery Disease & Atherosclerosis	Statins	Strong
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Statins	Established
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Statins	Established
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Statins	Established
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Statins	Moderate